Variant report

Variant	rs72797376
Chromosome Location	chr2:39089931-39089932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39089505..39093700-chr2:39094409..39098372,5	K562	blood:
2	chr2:39086851..39091387-chr2:39094171..39096771,4	K562	blood:
3	chr2:39088675..39091170-chr2:39093044..39095216,2	MCF-7	breast:
4	chr2:39065831..39067433-chr2:39089862..39092131,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MORN2-1	chr2:39089760-39090275	ENSG00000225284.1

Variant related genes	Relation type
ENSG00000163214	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1010859	0.83[AFR][1000 genomes]
rs2373469	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2373471	0.97[AFR][1000 genomes]
rs3099937	0.98[EUR][1000 genomes]
rs3099958	0.82[AFR][1000 genomes]
rs3100000	0.88[AFR][1000 genomes]
rs3112163	0.89[AFR][1000 genomes]
rs3112165	0.98[EUR][1000 genomes]
rs3112166	0.87[AFR][1000 genomes]
rs3112175	0.83[AFR][1000 genomes]
rs35349461	1.00[ASN][1000 genomes]
rs4670900	0.83[AFR][1000 genomes]
rs61736780	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6736353	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72797369	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72797386	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797389	0.83[AFR][1000 genomes]
rs72797392	0.97[AFR][1000 genomes]
rs72797401	0.84[AFR][1000 genomes]
rs72797402	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv2692	chr2:39065768-39111871	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39038800-39095600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:39038800-39102200	Weak transcription	Gastric	stomach
3	chr2:39039000-39090000	Weak transcription	Esophagus	oesophagus
4	chr2:39039000-39101200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:39039000-39102000	Weak transcription	Colonic Mucosa	Colon
6	chr2:39067200-39090200	Weak transcription	Stomach Mucosa	stomach
7	chr2:39068400-39090600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:39072200-39095400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:39072600-39090800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:39073000-39091200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:39073600-39090200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:39075200-39090800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:39076000-39090600	Strong transcription	Brain Germinal Matrix	brain
14	chr2:39076200-39090600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:39076400-39090800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:39076600-39090800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:39078000-39090800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:39078200-39091200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:39078400-39090600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:39078800-39090600	Strong transcription	Osteobl	bone
21	chr2:39079400-39090800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:39079600-39090400	Strong transcription	Fetal Thymus	thymus
23	chr2:39079600-39090800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:39079600-39090800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:39079600-39090800	Strong transcription	Fetal Brain Female	brain
26	chr2:39079800-39090600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:39079800-39090600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:39079800-39090600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:39079800-39090600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:39079800-39090600	Strong transcription	Brain Anterior Caudate	brain
31	chr2:39079800-39090600	Strong transcription	Fetal Muscle Leg	muscle
32	chr2:39079800-39090600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:39079800-39090800	Strong transcription	Adipose Nuclei	Adipose
34	chr2:39079800-39091000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:39079800-39091000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr2:39079800-39091200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:39080000-39090800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:39080000-39090800	Strong transcription	Brain Hippocampus Middle	brain
39	chr2:39080000-39090800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:39080000-39092000	Strong transcription	Primary T cells from cord blood	blood
41	chr2:39080000-39102200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:39080200-39090200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:39081200-39102200	Weak transcription	Right Ventricle	heart
44	chr2:39081200-39102200	Weak transcription	Spleen	Spleen
45	chr2:39081200-39102400	Weak transcription	Pancreas	Pancrea
46	chr2:39081600-39093400	Weak transcription	Aorta	Aorta
47	chr2:39082800-39090200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:39083000-39090600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:39083400-39090400	Strong transcription	Placenta	Placenta
50	chr2:39083400-39090800	Strong transcription	Fetal Lung	lung

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